Top twenty 10 kb regions in the human genome by estimated TMRCA.

aGenomic coordinates in hg19 assembly. The genome was simply partitioned into nonoverlapping 10 kb intervals in hg19 coordinates.bPosterior expected TMRCA in generations, averaged across unfiltered genomic positions in region.cNumber of polymorphisms in Complete Genomics dataset in region per kilobase of unfiltered sequence.dNormalized polymorphism rate: number of polymorphisms per unfiltered kilobase divided first by the local mutation rate (as estimated from divergence to nonhuman primate outgroup genomes) then by the average of the same polymorphism/divergence ratio in designated neutral regions. The resulting value can be interpreted as a fold increase in the mutation-normalized polymorphism rate compared with the expectation under neutrality. The same measure was computed from the much larger 1000 Genomes Project Phase 1 data set, and was significantly elevated in these 20 high-TMRCA regions (Supplementary Figure S13).ePossible copy number variant (CNV), based on Complete Genomics “hypervariable” or “invariant” labels (see Methods). Polymorphism rates in these regions may be over-estimated.